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Fragile X

The First Step in Family Planning

Fragile X syndrome is one of the most common genetic causes of female infertility and is associated with mutations in the FMR1 gene located on the X chromosome. From a reproductive perspective, FMR1 premutations are particularly important, as they may predispose individuals to premature ovarian insufficiency.

Fragile X syndrome is one of the most common inherited causes of intellectual disability and may be associated with learning difficulties, developmental delay, and behavioral differences.

Fragile X Carrier Screening is particularly recommended for women with a family history of Fragile X syndrome, unexplained intellectual disability, or premature ovarian insufficiency. Assessing carrier status in individuals planning a pregnancy or during pregnancy helps identify potential genetic risks and supports informed reproductive decision-making.

Feature Details
MethodFragment Analysis
CoverageFMR1 gene
Sample Requirement 

Blood (EDTA Tube)

Amniotic Fluid 

CVS

Saliva

Turnaround Time (TAT) 21 days

* Genetic counseling is recommended for individuals identified as carriers. This provides detailed information about the risk of passing the condition on to their children, available prenatal diagnostic options, and other clinical conditions associated with Fragile X syndrome.

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